Margaret L P Adam, MD

Margaret L P Adam, MD

Clinical Genetics, Differences in Sex Development, Congenital Adrenal Hyperplasia Program, Genetic Counseling, Fetal Care and Treatment Center

On staff since September 2009

Academic Title: Professor

Research Center: Center for Clinical and Translational Research

"What we do in genetics is a lot of diagnostics, putting things together and being able to provide a family with an answer for why their child has specific issues. It's rewarding to provide those answers and give parents an idea of what they can expect in the future. These families want answers, and we work to provide those answers for them."

  • Biography

    Margaret L.P. Adam, MD, is an attending physician at Seattle Children's Hospital and a professor in the Department of Pediatrics at the University of Washington School of Medicine. Dr. Adam's clinical interests include the diagnosis and management of infants, children, and adolescents with a variety of genetic conditions.

    Dr. Adam has a special interest in Mowat-Wilson syndrome, for which she has conducted clinical research in the past. She is currently involved as the primary geneticist in the Multidisciplinary Differences in Sex Development (DSD) clinic at Seattle Children's Hospital and she recently joined the Multidisciplinary 22q11 Deletion syndrome clinic. She also provides genetic consultations for pregnant women through the Prenatal Diagnostic Center at the University of Washington. Her current clinical research projects include working as a dysmorphologist on the Autoimmune Diseases in Pregnancy Project with the Organization of Teratology Information Specialists (OTIS) and on the Collaboration to Establish the Prevalence of Fetal Alcohol Spectrum Disorders in association with the University of California, San Diego.

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  • Awards and Honors

    Award Name Award Description Awarded By Award Date
    SEATTLE TOP DOCTOR - 2022 Seattle Magazine 2022
    Seattle Top Doctor - 2019 Seattle Magazine 2019
    SEATTLE'S TOP DOCTOR - 2018 Seattle Magazine 2018
    SEATTLE'S TOP DOCTOR - 2017 Seattle Magazine 2017
    Seattle's Top Doctors, Pediatric Genetics Seattle Magazine 2014
    Seattle's Top Doctors, Pediatric Genetics Seattle Magazine 2013
    Medical Expert of the Month for November/December Organization of Teratology Information Specialists 2011
    John M. Opitz Young Investigator Award 2007

  • Publications

    Other Publications

    • Adam AP, Curry CJ, Hall JG, Keppler-Noreuil KM, Adam MP, Dobyns WB
      Recurrent constellations of embryonic malformations re-conceptualized as an overlapping group of disorders with shared pathogenesis.
      32924308 American journal of medical genetics. Part A, 2020 Sep 14
    • Schneeberger PE, Kortüm F, Korenke GC, Alawi M, Santer R, Woidy M, Buhas D, Fox S, Juusola J, Alfadhel M, Webb BD, Coci EG, Abou Jamra R, Siekmeyer M, Biskup S, Heller C, Maier EM, Javaher-Haghighi P, Bedeschi MF, Ajmone PF, Iascone M, Peeters H, Ballon K, Jaeken J, Rodríguez Alonso A, Palomares-Bralo M, Santos-Simarro F, Meuwissen MEC, Beysen D, Kooy RF, Houlden H, Murphy D, Doosti M, Karimiani EG, Mojarrad M, Maroofian R, Noskova L, Kmoch S, Honzik T, Cope H, Sanchez-Valle A, Undiagnosed Diseases Network ., Gelb BD, Kurth I, Hempel M, Kutsche K
      Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder.
      32761064 Brain : a journal of neurology, 2020 Aug 1 : 143(8)2437-2453 PMCID:PMC7447524
    • Gomez DA, May PA, Tabachnick BG, Hasken JM, Lyden ER, Kalberg WO, Hoyme HE, Manning MA, Adam MP, Robinson LK, Jones KL, Buckley D, Abdul-Rahman OA
      Ocular measurements in fetal alcohol spectrum disorders.
      32677343 American journal of medical genetics. Part A, 2020 Jul 17
    • Canalichio KL, Shnorhavorian M, Oelschlager AA, Ramsdell L, Fisher C, Adam MP, Fechner PY
      A non-surgical approach to 46,XY differences in sex development through hormonal suppression at puberty: a single-center case series study.
      32643049 Endocrine, 2020 Jul 8
    • Wenger TL, Bly RA, Wu N, Albert CM, Park J, Shieh J, Chenbhanich J, Heike CL, Adam MP, Chang I, Sun A, Miller DE, Beck AE, Gupta D, Boos MD, Zackai EH, Everman D, Ganapathi S, Wilson M, Christodoulou J, Zarate YA, Curry C, Li D, Guimier A, Amiel J, Hakonarson H, Webster R, Bhoj EJ, Perkins JA, Dahl JP, Dobyns WB
      Activating variants in PDGFRB result in a spectrum of disorders responsive to imatinib monotherapy.
      32500973 American journal of medical genetics. Part A, 2020 July : 182(7)1576-1591
    • Ivanovski I, Djuric O, Broccoli S, Caraffi SG, Accorsi P, Adam MP, Avela K, Badura-Stronka M, Bayat A, Clayton-Smith J, Cocco I, Cordelli DM, Cuturilo G, Di Pisa V, Dupont Garcia J, Gastaldi R, Giordano L, Guala A, Hoei-Hansen C, Inaba M, Iodice A, Nielsen JEK, Kuburovic V, Lazalde-Medina B, Malbora B, Mizuno S, Moldovan O, Møller RS, Muschke P, Otelli V, Pantaleoni C, Piscopo C, Poch-Olive ML, Prpic I, Marín Reina P, Raviglione F, Ricci E, Scarano E, Simonte G, Smigiel R, Tanteles G, Tarani L, Trimouille A, Valera ET, Schrier Vergano S, Writzl K, Callewaert B, Savasta S, Street ME, Iughetti L, Bernasconi S, Giorgi Rossi P, Garavelli L
      Mowat-Wilson syndrome: growth charts.
      32539836 Orphanet journal of rare diseases, 2020 Jun 15 : 15(1)151 PMCID:PMC7294656
    • Freed AS, Clowes Candadai SV, Sikes MC, Thies J, Byers HM, Dines JN, Ndugga-Kabuye MK, Smith MB, Fogus K, Mefford HC, Lam C, Adam MP, Sun A, McGuire JK, DiGeronimo R, Dipple KM, Deutsch GH, Billimoria ZC, Bennett JT
      The Impact of Rapid Exome Sequencing on Medical Management of Critically Ill Children.
      32553838 The Journal of pediatrics, 2020 Jun 15
    • Mao D, Reuter CM, Ruzhnikov MRZ, Beck AE, Farrow EG, Emrick LT, Rosenfeld JA, Mackenzie KM, Robak L, Wheeler MT, Burrage LC, Jain M, Liu P, Calame D, Küry S, Sillesen M, Schmitz-Abe K, Tonduti D, Spaccini L, Iascone M, Genetti CA, Koenig MK, Graf M, Tran A, Alejandro M, Undiagnosed Diseases Network., Lee BH, Thiffault I, Agrawal PB, Bernstein JA, Bellen HJ, Chao HT
      De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation.
      32197074 American journal of human genetics, 2020 Apr 2 : 106(4)570-583 PMCID:PMC7118694
    • Hougen HY, Seideman CA, Adam MP, Amies Oelschlager AM, Fechner PY, Ramsell L, Shnorhavorian M, Squire A, Austin JC
      Congenital virilization of female infants recognized after pregnancies with retained levonorgestrel intrauterine devices.
      32265103 Journal of pediatric urology, 2020 April : 16(2)241-243
    • May PA, Hasken JM, Baete A, Russo J, Elliott AJ, Kalberg WO, Buckley D, Brooks M, Ortega MA, Hedrick DM, Tabachnick BG, Abdul-Rahman O, Adam MP, Jewett T, Robinson LK, Manning MA, Hoyme HE
      Fetal Alcohol Spectrum Disorders in a Midwestern City: Child Characteristics, Maternal Risk Traits, and Prevalence.
      32293735 Alcoholism, clinical and experimental research, 2020 April : 44(4)919-938 PMCID:PMC7166178
    • May PA, Hasken JM, Stegall JM, Mastro HA, Kalberg WO, Buckley D, Brooks M, Hedrick DM, Ortega MA, Elliott AJ, Tabachnick BG, Abdul-Rahman O, Adam MP, Robinson LK, Manning MA, Jewett T, Hoyme HE
      Fetal Alcohol Spectrum Disorders in a Southeastern County of the United States: Child Characteristics and Maternal Risk Traits.
      32293734 Alcoholism, clinical and experimental research, 2020 April : 44(4)939-959 PMCID:PMC7169982
    • May PA, Hasken JM, Bozeman R, Jones JV, Burns MK, Goodover J, Kalberg WO, Buckley D, Brooks M, Ortega MA, Elliott AJ, Hedrick DM, Tabachnick BG, Abdul-Rahman O, Adam MP, Jewett T, Robinson LK, Manning MA, Hoyme HE
      Fetal Alcohol Spectrum Disorders in a Rocky Mountain Region City: Child Characteristics, Maternal Risk Traits, and Prevalence.
      32293732 Alcoholism, clinical and experimental research, 2020 April : 44(4)900-918 PMCID:PMC7166196
    • Adam MB, Clough DL, Grumett D
      A Christian Case for Farmed Animal Welfare.
      31835710 Animals : an open access journal from MDPI, 2019 Dec 11 : 9(12) PMCID:PMC6941123
    • Kalberg WO, May PA, Buckley D, Hasken JM, Marais AS, De Vries MM, Bezuidenhout H, Manning MA, Robinson LK, Adam MP, Hoyme DB, Parry CDH, Seedat S, Elliott AJ, Hoyme HE
      Early-Life Predictors of Fetal Alcohol Spectrum Disorders.
      31744890 Pediatrics, 2019 Dec. : 144(6) PMCID:PMC6889972
    • Chambers CD, Coles C, Kable J, Akshoomoff N, Xu R, Zellner JA, Honerkamp-Smith G, Manning MA, Adam MP, Jones KL
      Fetal Alcohol Spectrum Disorders in a Pacific Southwest City: Maternal and Child Characteristics.
      31688971 Alcoholism, clinical and experimental research, 2019 Dec. : 43(12)2578-2590 PMCID:PMC6904497
    • Holt JM, Wilk B, Birch CL, Brown DM, Gajapathy M, Moss AC, Sosonkina N, Wilk MA, Anderson JA, Harris JM, Kelly JM, Shaterferdosian F, Uno-Antonison AE, Weborg A, Undiagnosed Diseases Network., Worthey EA
      VarSight: prioritizing clinically reported variants with binary classification algorithms.
      31615419 BMC bioinformatics, 2019 Oct 15 : 20(1)496 PMCID:PMC6792253
    • Carter LB, Battaglia A, Cherry A, Manning MA, Ruzhnikov MR, Bird LM, Dowsett L, Graham JM Jr, Alkuraya FS, Hashem M, Dinulos MB, Vallee S, Adam MP, Glass I, Beck AE, Stevens CA, Zackai E, McDougall C, Keena B, Peron A, Vignoli A, Seaver LH, Slavin TP, Hudgins L
      Perinatal distress in 1p36 deletion syndrome can mimic hypoxic ischemic encephalopathy.
      31207089 American journal of medical genetics. Part A, 2019 Aug. : 179(8)1543-1546 PMCID:PMC7254578
    • Yuan B, Neira J, Pehlivan D, Santiago-Sim T, Song X, Rosenfeld J, Posey JE, Patel V, Jin W, Adam MP, Baple EL, Dean J, Fong CT, Hickey SE, Hudgins L, Leon E, Madan-Khetarpal S, Rawlins L, Rustad CF, Stray-Pedersen A, Tveten K, Wenger O, Diaz J, Jenkins L, Martin L, McGuire M, Pietryga M, Ramsdell L, Slattery L, DDD Study., Abid F, Bertuch AA, Grange D, Immken L, Schaaf CP, Van Esch H, Bi W, Cheung SW, Breman AM, Smith JL, Shaw C, Crosby AH, Eng C, Yang Y, Lupski JR, Xiao R, Liu P
      Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies.
      30158690 Genetics in medicine : official journal of the American College of Medical Genetics, 2019 March : 21(3)663-675 PMCID:PMC6395558
    • Adam MP, Banka S, Bjornsson HT, Bodamer O, Chudley AE, Harris J, Kawame H, Lanpher BC, Lindsley AW, Merla G, Miyake N, Okamoto N, Stumpel CT, Niikawa N, Kabuki Syndrome Medical Advisory Board.
      Kabuki syndrome: international consensus diagnostic criteria.
      30514738 Journal of medical genetics, 2019 Feb. : 56(2)89-95
    • LaCroix AJ, Stabley D, Sahraoui R, Adam MP, Mehaffey M, Kernan K, Myers CT, Fagerstrom C, Anadiotis G, Akkari YM, Robbins KM, Gripp KW, Baratela WAR, Bober MB, Duker AL, Doherty D, Dempsey JC, Miller DG, Kircher M, Bamshad MJ, Nickerson DA, University of Washington Center for Mendelian Genomics., Mefford HC, Sol-Church K
      GGC Repeat Expansion and Exon 1 Methylation of XYLT1 Is a Common Pathogenic Variant in Baratela-Scott Syndrome.
      30554721 American journal of human genetics, 2019 Jan 3 : 104(1)35-44 PMCID:PMC6323552
    • Chambers CD, Johnson DL, Xu R, Luo Y, Lopez-Jimenez J, Adam MP, Braddock SR, Robinson LK, Vaux K, Lyons Jones K, OTIS Collaborative Research Group.
      Birth outcomes in women who have taken adalimumab in pregnancy: A prospective cohort study.
      31626646 PloS one, 2019 : 14(10)e0223603 PMCID:PMC6799916
    • Byers HM, Neufeld-Kaiser W, Chang EY, Tsuchiya K, Oehler ES, Adam MP
      Discordant sex between fetal screening and postnatal phenotype requires evaluation.
      30459335 Journal of perinatology : official journal of the California Perinatal Association, 2019 Jan. : 39(1)28-33 PMCID:PMC6340391
    • Ivanovski I, Djuric O, Caraffi SG, Santodirocco D, Pollazzon M, Rosato S, Cordelli DM, Abdalla E, Accorsi P, Adam MP, Ajmone PF, Badura-Stronka M, Baldo C, Baldi M, Bayat A, Bigoni S, Bonvicini F, Breckpot J, Callewaert B, Cocchi G, Cuturilo G, De Brasi D, Devriendt K, Dinulos MB, Hjortshøj TD, Epifanio R, Faravelli F, Fiumara A, Formisano D, Giordano L, Grasso M, Grønborg S, Iodice A, Iughetti L, Kuburovic V, Kutkowska-Kazmierczak A, Lacombe D, Lo Rizzo C, Luchetti A, Malbora B, Mammi I, Mari F, Montorsi G, Moutton S, Møller RS, Muschke P, Nielsen JEK, Obersztyn E, Pantaleoni C, Pellicciari A, Pisanti MA, Prpic I, Poch-Olive ML, Raviglione F, Renieri A, Ricci E, Rivieri F, Santen GW, Savasta S, Scarano G, Schanze I, Selicorni A, Silengo M, Smigiel R, Spaccini L, Sorge G, Szczaluba K, Tarani L, Tone LG, Toutain A, Trimouille A, Valera ET, Vergano SS, Zanotta N, Zenker M, Conidi A, Zollino M, Rauch A, Zweier C, Garavelli L
      Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care.
      29300384 Genetics in medicine : official journal of the American College of Medical Genetics, 2018 Sept. : 20(9)965-975
    • Adam MP
      Is prenatal genomic testing ready for prime time?
      29565422 Genetics in medicine : official journal of the American College of Medical Genetics, 2018 July : 20(7)695-696
    • May PA, Chambers CD, Kalberg WO, Zellner J, Feldman H, Buckley D, Kopald D, Hasken JM, Xu R, Honerkamp-Smith G, Taras H, Manning MA, Robinson LK, Adam MP, Abdul-Rahman O, Vaux K, Jewett T, Elliott AJ, Kable JA, Akshoomoff N, Falk D, Arroyo JA, Hereld D, Riley EP, Charness ME, Coles CD, Warren KR, Jones KL, Hoyme HE
      Prevalence of Fetal Alcohol Spectrum Disorders in 4 US Communities.
      29411031 JAMA, 2018 Feb 6 : 319(5)474-482 PMCID:PMC5839298
    • Chang IJ, Adam MP, Jayadev S, Bird TD, Natarajan N, Glass IA
      Novel pregnancy-triggered episodes of CAPOS syndrome.
      29090527 American journal of medical genetics. Part A, 2018 Jan. : 176(1)235-240 PMCID:PMC5726903
    • Garavelli L, Ivanovski I, Caraffi SG, Santodirocco D, Pollazzon M, Cordelli DM, Abdalla E, Accorsi P, Adam MP, Baldo C, Bayat A, Belligni E, Bonvicini F, Breckpot J, Callewaert B, Cocchi G, Cuturilo G, Devriendt K, Dinulos MB, Djuric O, Epifanio R, Faravelli F, Formisano D, Giordano L, Grasso M, Grønborg S, Iodice A, Iughetti L, Lacombe D, Maggi M, Malbora B, Mammi I, Moutton S, Møller R, Muschke P, Napoli M, Pantaleoni C, Pascarella R, Pellicciari A, Poch-Olive ML, Raviglione F, Rivieri F, Russo C, Savasta S, Scarano G, Selicorni A, Silengo M, Sorge G, Tarani L, Tone LG, Toutain A, Trimouille A, Valera ET, Vergano SS, Zanotta N, Zollino M, Dobyns WB, Paciorkowski AR
      Neuroimaging findings in Mowat-Wilson syndrome: a study of 54 patients.
      27831545 Genetics in medicine : official journal of the American College of Medical Genetics, 2017 June : 19(6)691-700 PMCID:PMC5438871
    • Délot EC, Papp JC, DSD-TRN Genetics Workgroup., Sandberg DE, Vilain E
      Genetics of Disorders of Sex Development: The DSD-TRN Experience.
      28476235 Endocrinology and metabolism clinics of North America, 2017 June : 46(2)519-537 PMCID:PMC5714504
    • Byers HM, Mohnach LH, Fechner PY, Chen M, Thomas IH, Ramsdell LA, Shnorhavorian M, McCauley EA, Amies Oelschlager AE, Park JM, Sandberg DE, Adam MP, Keegan CE
      Unexpected ethical dilemmas in sex assignment in 46,XY DSD due to 5-alpha reductase type 2 deficiency.
      28544750 American journal of medical genetics. Part C, Seminars in medical genetics, 2017 June : 175(2)260-267 PMCID:PMC5489130
    • Adam MP, Vilain E
      Emerging issues in disorders/differences of sex development (DSD).
      28577349 American journal of medical genetics. Part C, Seminars in medical genetics, 2017 June : 175(2)249-252
    • May PA, De Vries MM, Marais AS, Kalberg WO, Buckley D, Adnams CM, Hasken JM, Tabachnick B, Robinson LK, Manning MA, Bezuidenhout H, Adam MP, Jones KL, Seedat S, Parry CDH, Hoyme HE
      Replication of High Fetal Alcohol Spectrum Disorders Prevalence Rates, Child Characteristics, and Maternal Risk Factors in a Second Sample of Rural Communities in South Africa.
      28498341 International journal of environmental research and public health, 2017 May 12 : 14(5) PMCID:PMC5451973
    • Byers HM, Adam MP, LaCroix A, Leary SE, Cole B, Dobyns WB, Mefford HC
      Description of a new oncogenic mechanism for atypical teratoid rhabdoid tumors in patients with ring chromosome 22.
      27734605 American journal of medical genetics. Part A, 2017 Jan. : 173(1)245-249 PMCID:PMC5999866
    • Bowdin S, Gilbert A, Bedoukian E, Carew C, Adam MP, Belmont J, Bernhardt B, Biesecker L, Bjornsson HT, Blitzer M, D'Alessandro LC, Deardorff MA, Demmer L, Elliott A, Feldman GL, Glass IA, Herman G, Hindorff L, Hisama F, Hudgins L, Innes AM, Jackson L, Jarvik G, Kim R, Korf B, Ledbetter DH, Li M, Liston E, Marshall C, Medne L, Meyn MS, Monfared N, Morton C, Mulvihill JJ, Plon SE, Rehm H, Roberts A, Shuman C, Spinner NB, Stavropoulos DJ, Valverde K, Waggoner DJ, Wilkens A, Cohn RD, Krantz ID
      Recommendations for the integration of genomics into clinical practice.
      27171546 Genetics in medicine : official journal of the American College of Medical Genetics, 2016 Nov. : 18(11)1075-1084 PMCID:PMC5557020
    • Hoyme HE, Kalberg WO, Elliott AJ, Blankenship J, Buckley D, Marais AS, Manning MA, Robinson LK, Adam MP, Abdul-Rahman O, Jewett T, Coles CD, Chambers C, Jones KL, Adnams CM, Shah PE, Riley EP, Charness ME, Warren KR, May PA
      Updated Clinical Guidelines for Diagnosing Fetal Alcohol Spectrum Disorders.
      27464676 Pediatrics, 2016 Aug. : 138(2) PMCID:PMC4960726
    • Gripp KW, Adam MP, Hudgins L, Carey JC
      36th Annual David W. Smith Workshop on Malformations and Morphogenesis: Abstracts of the 2015 annual meeting.
      27119594 American journal of medical genetics. Part A, 2016 July : 170(7)1665-726
    • Jones KL, Schwarze U, Adam MP, Byers PH, Mefford HC
      A homozygous B3GAT3 mutation causes a severe syndrome with multiple fractures, expanding the phenotype of linkeropathy syndromes.
      26086840 American journal of medical genetics. Part A, 2015 Nov. : 167A(11)2691-6 PMCID:PMC4654953
    • Wenger TL, Harr M, Ricciardi S, Bhoj E, Santani A, Adam MP, Barnett SS, Ganetzky R, McDonald-McGinn DM, Battaglia D, Bigoni S, Selicorni A, Sorge G, Monica MD, Mari F, Andreucci E, Romano S, Cocchi G, Savasta S, Malbora B, Marangi G, Garavelli L, Zollino M, Zackai EH
      "CHARGE-like presentation, craniosynostosis and mild Mowat-Wilson Syndrome diagnosed by recognition of the distinctive facial gestalt in a cohort of 28 new cases" American Journal of Medical Genetics Part A. 164:2557-2566, 2014.
      26097173 American journal of medical genetics. Part A, 2015 July : 167(7)1682-3
    • Wenger TL, Harr M, Ricciardi S, Bhoj E, Santani A, Adam MP, Barnett SS, Ganetzky R, McDonald-McGinn DM, Battaglia D, Bigoni S, Selicorni A, Sorge G, Monica MD, Mari F, Andreucci E, Romano S, Cocchi G, Savasta S, Malbora B, Marangi G, Garavelli L, Zollino M, Zackai EH
      "CHARGE-like presentation, craniosynostosis and mild Mowat-Wilson Syndrome diagnosed by recognition of the distinctive facial gestalt in a cohort of 28 new cases" American Journal of Medical Genetics Part A. 164:2557-2566, 2014.
      26097173 American journal of medical genetics. Part A, 2015 July : 167(7)1682-3
    • Jones KL, Adam MP
      Evaluation and diagnosis of the dysmorphic infant.
      26042903 Clinics in perinatology, 2015 June : 42(2)243-61, vii-viii PMCID:PMC4707958
    • Hoyme HE, Hoyme DB, Elliott AJ, Blankenship J, Kalberg WO, Buckley D, Abdul-Rahman O, Adam MP, Robinson LK, Manning M, Bezuidenhout H, Jones KL, May PA
      A South African mixed race lip/philtrum guide for diagnosis of fetal alcohol spectrum disorders.
      25711340 American journal of medical genetics. Part A, 2015 April : 167A(4)752-5 PMCID:PMC4507499
    • Hoyme HE, Hoyme DB, Elliott AJ, Blankenship J, Kalberg WO, Buckley D, Abdul-Rahman O, Adam MP, Robinson LK, Manning M, Bezuidenhout H, Jones KL, May PA
      A South African mixed race lip/philtrum guide for diagnosis of fetal alcohol spectrum disorders.
      25711340 American journal of medical genetics. Part A, 2015 April : 167A(4)752-5 PMCID:PMC4507499
    • Baxter RM, Arboleda VA, Lee H, Barseghyan H, Adam MP, Fechner PY, Bargman R, Keegan C, Travers S, Schelley S, Hudgins L, Mathew RP, Stalker HJ, Zori R, Gordon OK, Ramos-Platt L, Pawlikowska-Haddal A, Eskin A, Nelson SF, Délot E, Vilain E
      Exome sequencing for the diagnosis of 46,XY disorders of sex development.
      25383892 The Journal of clinical endocrinology and metabolism, 2015 Feb. : 100(2)E333-44 PMCID:PMC4318895
    • Brennan ML, Adam MP, Seaver LH, Myers A, Schelley S, Zadeh N, Hudgins L, Bernstein JA
      Increased body mass in infancy and early toddlerhood in Angelman syndrome patients with uniparental disomy and imprinting center defects.
      25402239 American journal of medical genetics. Part A, 2015 Jan. : 167A(1)142-6
    • Tully HM, Dempsey JC, Ishak GE, Adam MP, Curry CJ, Sanchez-Lara P, Hunter A, Gripp KW, Allanson J, Cunniff C, Glass I, Millen KJ, Doherty D, Dobyns WB
      Beyond Gómez-López-Hernández syndrome: recurring phenotypic themes in rhombencephalosynapsis.
      22965664 American journal of medical genetics. Part A, 2012 Oct. : 158A(10)2393-406 PMCID:PMC3448816
    • Keppler-Noreuil KM, Adam MP, Welch J, Muilenburg A, Willing MC
      Clinical insights gained from eight new cases and review of reported cases with Jeune syndrome (asphyxiating thoracic dystrophy).
      21465651 American journal of medical genetics. Part A, 2011 May : 155A(5)1021-32
    • Ballif BC, Theisen A, Rosenfeld JA, Traylor RN, Gastier-Foster J, Thrush DL, Astbury C, Bartholomew D, McBride KL, Pyatt RE, Shane K, Smith WE, Banks V, Gallentine WB, Brock P, Rudd MK, Adam MP, Keene JA, Phillips JA 3rd, Pfotenhauer JP, Gowans GC, Stankiewicz P, Bejjani BA, Shaffer LG
      Identification of a recurrent microdeletion at 17q23.1q23.2 flanked by segmental duplications associated with heart defects and limb abnormalities.
      20206336 American journal of human genetics, 2010 Mar 12 : 86(3)454-61 PMCID:PMC2833380
    • Adam MP, Justice AN, Bean LJ, Fernhoff PM
      Mowat-Wilson syndrome with craniosynostosis: a case report.
      18076118 American journal of medical genetics. Part A, 2008 Jan 15 : 146A(2)245-6

  • Presentations

    Presentation Title Event Location Date
    "Kleefstra Syndrome (9q34.3 Microdeletion Syndrome)." American College of Medical Genetics Charlotte, NC Mar 30, 2012
    "Genomic Technologies" Division of Endocrinology, Seattle Children's Hospital Seattle, WA Jan 24, 2012
    "Evolving knowledge of the teratogenicity of medications in human pregnancy." Pediatric Grand Rounds, Seattle Children's Hospital Seattle, WA Jul 28, 2011
    "Prenatal Diagnosis of Disorders of Sex Development." Disorders of Sex Development: Clinical, Ethical and Legal Perspectives CME Seattle, WA Jul 10, 2011
    "Clinical Utility of Array Comparative Genomic Hybridization (aCGH)." Genetic Providers Group Education Meeting Kent, WA Oct 1, 2010
    "The 22q11 Deletion Syndrome" 20th Cleft L ip and Palate Symposium Atlanta, GA Oct 25, 2008
    "Homozygous Alpha-Thalassemia and Birth Defects in Humans: A Possible Hypoxic Mechanism" 48th Annual Meeting of the Teratology Society Monterey, CA Jul 29, 2008
    "Oncogenes and Human Malformation Syndromes." 38th Annual Environmental Mutagen Society Meeting Atlanta, GA Oct 24, 2007
    "Genetic Counseling and Prenatal Diagnosis for Families with Primary Immunodeficiency Syndromes" Emory University School of Medicine Atlanta, GA May 5, 2007
    "Cardinal Signs and Symptoms of Mowat-Wilson Syndrome." American College of Medical Genetics Nashville, TN Mar 25, 2007
    "On the Horizon: Array Comparative Genomic Hybridization." Georgia Birth Defects Surveillance Advisory Committee Atlanta, GA Apr 28, 2006
    "Approach to the Dysmorphic Newborn." Neonatology 2006 Atlanta, GA Mar 31, 2006
    "The Genetics of Facial Clefting." Georgia Speech-Language-Hearing Association Atlanta, GA Mar 25, 2006

  • Research Funding

    Grant Title Grantor Amount Award Date
    Fetal Alcohol Syndrome-South Africa $5,000-10,000/year depending on study needs 2013 - 2018
    FASER University of New Mexico, Albuquerque $5,000-10,000/year, depending on study needs 2010 - 2016
    Autoimmune Diseases in Pregnancy Study University of California $10,000-20,000/year, depending on study needs 2010 - 2017

Overview

Board Certification(s)

Pediatrics
Medical Genetics, Clinical Genetics (M.D.)

Medical/Professional School

Stanford University, Stanford, CA

Residency

Lucile Salter Packard Children's Hospital-Stanford, Palo Alto, CA
Stanford University Medical Center, Stanford, CA

Clinical Interests

Dysmorphology, Mowat-Wilson Syndrome, Teratology